LOC126862088 (BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283) - Rat Genome Database

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Gene: LOC126862088 (BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283) Homo sapiens
Analyze
Symbol: LOC126862088
Name: BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283
RGD ID: 155228041
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Sep 2022]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381531,025,881 - 31,027,080 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01528,819,974 - 28,821,173 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126862088
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001252024.2(TRPM1):c.3629+4C>T single nucleotide variant not provided [RCV001927638] Chr15:31026135 [GRCh38]
Chr15:31318338 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 copy number gain See cases [RCV000051112] Chr15:23319714..32607357 [GRCh38]
Chr15:22698522..32899558 [GRCh37]
Chr15:20249886..30686850 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000148179] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000148165] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3 copy number gain See cases [RCV000051332] Chr15:28918473..32606466 [GRCh38]
Chr15:29210676..32898667 [GRCh37]
Chr15:26997968..30685959 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3 copy number gain See cases [RCV000051334] Chr15:30109224..32149250 [GRCh38]
Chr15:30401427..32441451 [GRCh37]
Chr15:28188719..30228743 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1 copy number loss See cases [RCV000051585] Chr15:30361674..32630901 [GRCh38]
Chr15:30653877..32923102 [GRCh37]
Chr15:28441169..30710394 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3497-93G>A single nucleotide variant not provided [RCV001534804] Chr15:31026364 [GRCh38]
Chr15:31318567 [GRCh37]
Chr15:15q13.3		 benign
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3 copy number gain See cases [RCV000051336] Chr15:30361674..32343758 [GRCh38]
Chr15:30653877..32635959 [GRCh37]
Chr15:28441169..30423251 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=) single nucleotide variant Congenital stationary night blindness 1C [RCV001118465]|not provided [RCV001514860]|not specified [RCV001701286] Chr15:31026967 [GRCh38]
Chr15:31319170 [GRCh37]
Chr15:15q13.3		 benign
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000148196] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu) single nucleotide variant Congenital stationary night blindness 1C [RCV001115312]|not provided [RCV001523169] Chr15:31026205 [GRCh38]
Chr15:31318408 [GRCh37]
Chr15:15q13.3		 benign|uncertain significance
NM_001252024.2(TRPM1):c.3608G>C (p.Arg1203Pro) single nucleotide variant not provided [RCV002295870] Chr15:31026160 [GRCh38]
Chr15:31318363 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3365C>G (p.Thr1122Arg) single nucleotide variant not provided [RCV001937651] Chr15:31027046 [GRCh38]
Chr15:31319249 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3 copy number gain See cases [RCV000051351] Chr15:30640878..32222779 [GRCh38]
Chr15:30933081..32514980 [GRCh37]
Chr15:28720373..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3395C>G (p.Pro1132Arg) single nucleotide variant Inborn genetic diseases [RCV002569271]|not provided [RCV001966230] Chr15:31027016 [GRCh38]
Chr15:31319219 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg) single nucleotide variant Congenital stationary night blindness 1C [RCV001118464]|not provided [RCV002558171] Chr15:31026235 [GRCh38]
Chr15:31318438 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3348A>G (p.Arg1116=) single nucleotide variant not provided [RCV001970362] Chr15:31027063 [GRCh38]
Chr15:31319266 [GRCh37]
Chr15:15q13.3		 likely benign|uncertain significance
NM_001252024.2(TRPM1):c.3579G>C (p.Glu1193Asp) single nucleotide variant not provided [RCV001978644] Chr15:31026189 [GRCh38]
Chr15:31318392 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3590A>C (p.Gln1197Pro) single nucleotide variant not provided [RCV001982081] Chr15:31026178 [GRCh38]
Chr15:31318381 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3557del (p.Gln1186fs) deletion not provided [RCV001756652] Chr15:31026211 [GRCh38]
Chr15:31318414 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1 copy number loss See cases [RCV000052452] Chr15:30527262..32343758 [GRCh38]
Chr15:30819465..32635959 [GRCh37]
Chr15:28606757..30423251 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1 copy number loss See cases [RCV000052455] Chr15:30614351..32606466 [GRCh38]
Chr15:30906554..32898667 [GRCh37]
Chr15:28693846..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1 copy number loss See cases [RCV000052458] Chr15:30634533..32121422 [GRCh38]
Chr15:30926736..32413623 [GRCh37]
Chr15:28714028..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1 copy number loss See cases [RCV000052465] Chr15:30822844..32149250 [GRCh38]
Chr15:31115047..32441451 [GRCh37]
Chr15:28902339..30228743 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3496+6T>C single nucleotide variant not provided [RCV002050050] Chr15:31026909 [GRCh38]
Chr15:31319112 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3445C>T (p.Arg1149Cys) single nucleotide variant not provided [RCV002050684] Chr15:31026966 [GRCh38]
Chr15:31319169 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1 copy number loss See cases [RCV000052412] Chr15:28918473..32149250 [GRCh38]
Chr15:29210676..32441451 [GRCh37]
Chr15:26997968..30228743 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3443G>T (p.Gly1148Val) single nucleotide variant not provided [RCV001240441] Chr15:31026968 [GRCh38]
Chr15:31319171 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3522A>G (p.Leu1174=) single nucleotide variant not provided [RCV002090206] Chr15:31026246 [GRCh38]
Chr15:31318449 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3538_3539insGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGCATGAGT (p.Phe1180Ter) insertion not provided [RCV002037767] Chr15:31026229..31026230 [GRCh38]
Chr15:31318432..31318433 [GRCh37]
Chr15:15q13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1 copy number loss See cases [RCV000052430] Chr15:30361674..31317476 [GRCh38]
Chr15:30653877..31609679 [GRCh37]
Chr15:28441169..29396971 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3608G>A (p.Arg1203His) single nucleotide variant not provided [RCV002593921] Chr15:31026160 [GRCh38]
Chr15:31318363 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3546G>C (p.Glu1182Asp) single nucleotide variant not provided [RCV001893219] Chr15:31026222 [GRCh38]
Chr15:31318425 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3386T>G (p.Leu1129Arg) single nucleotide variant not provided [RCV002653466] Chr15:31027025 [GRCh38]
Chr15:31319228 [GRCh37]
Chr15:15q13.3		 uncertain significance
NC_000015.10:g.(?_30568981)_(32151126_?)del deletion Autism [RCV000754163] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754164] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His) single nucleotide variant Congenital stationary night blindness 1C [RCV000393442]|not provided [RCV000892494]|not specified [RCV000154020] Chr15:31026219 [GRCh38]
Chr15:31318422 [GRCh37]
Chr15:15q13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001252024.2(TRPM1):c.3487C>A (p.Arg1163Ser) single nucleotide variant not provided [RCV001886275] Chr15:31026924 [GRCh38]
Chr15:31319127 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3516G>A (p.Glu1172=) single nucleotide variant not provided [RCV002155779] Chr15:31026252 [GRCh38]
Chr15:31318455 [GRCh37]
Chr15:15q13.3		 likely benign
Single allele deletion Chromosome 15q13.3 microdeletion syndrome [RCV002280355] Chr15:30626003..32111997 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3389C>T (p.Pro1130Leu) single nucleotide variant not provided [RCV002042651] Chr15:31027022 [GRCh38]
Chr15:31319225 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3506T>G (p.Leu1169Arg) single nucleotide variant not provided [RCV001210952] Chr15:31026262 [GRCh38]
Chr15:31318465 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3567C>G (p.Phe1189Leu) single nucleotide variant Inborn genetic diseases [RCV002538436]|not provided [RCV001294401] Chr15:31026201 [GRCh38]
Chr15:31318404 [GRCh37]
Chr15:15q13.3		 likely benign|uncertain significance
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) deletion Congenital stationary night blindness 1C [RCV001542687]|not provided [RCV000176649] Chr15:31026197 [GRCh38]
Chr15:31318400 [GRCh37]
Chr15:15q13.3		 pathogenic|likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1 copy number loss See cases [RCV000052453] Chr15:30592358..32121422 [GRCh38]
Chr15:30884561..32413623 [GRCh37]
Chr15:28671853..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1 copy number loss See cases [RCV000052464] Chr15:30750713..32217725 [GRCh38]
Chr15:31042916..32509926 [GRCh37]
Chr15:28830208..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3564C>T (p.His1188=) single nucleotide variant not provided [RCV002600479] Chr15:31026204 [GRCh38]
Chr15:31318407 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1 copy number loss See cases [RCV000052481] Chr15:30822844..32606466 [GRCh38]
Chr15:31115047..32898667 [GRCh37]
Chr15:28902339..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3495G>A (p.Leu1165=) single nucleotide variant not provided [RCV001208677] Chr15:31026916 [GRCh38]
Chr15:31319119 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3339G>A (p.Lys1113=) single nucleotide variant not provided [RCV002622526] Chr15:31027072 [GRCh38]
Chr15:31319275 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3607C>A (p.Arg1203Ser) single nucleotide variant not provided [RCV000488117] Chr15:31026161 [GRCh38]
Chr15:31318364 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1 copy number loss See cases [RCV000050564] Chr15:28314197..32343758 [GRCh38]
Chr15:28579796..32635959 [GRCh37]
Chr15:26232938..30423251 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000050599] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1 copy number loss See cases [RCV000050376] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.(?_30568981)_(32318632_?)del deletion Autism [RCV000754165] Chr15:30568981..32318632 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1 copy number loss See cases [RCV000050609] Chr15:30662523..32607357 [GRCh38]
Chr15:30954726..32899558 [GRCh37]
Chr15:28742018..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3531G>A (p.Leu1177=) single nucleotide variant not provided [RCV002168746] Chr15:31026237 [GRCh38]
Chr15:31318440 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000050899] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
NM_001252024.2(TRPM1):c.3629+15C>G single nucleotide variant not provided [RCV002197091] Chr15:31026124 [GRCh38]
Chr15:31318327 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1 copy number loss See cases [RCV000050511] Chr15:30438310..32217725 [GRCh38]
Chr15:30730513..32509926 [GRCh37]
Chr15:28517805..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.31026261_31026273del deletion not provided [RCV002611382] Chr15:31026259..31026271 [GRCh38]
Chr15:31318462..31318474 [GRCh37]
Chr15:15q13.3		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3416del (p.Ile1139fs) deletion not provided [RCV001994519] Chr15:31026995 [GRCh38]
Chr15:31319198 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_001252024.2(TRPM1):c.3580G>T (p.Asp1194Tyr) single nucleotide variant not provided [RCV002047456] Chr15:31026188 [GRCh38]
Chr15:31318391 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1 copy number loss See cases [RCV000052426] Chr15:30109224..32606466 [GRCh38]
Chr15:30401427..32898667 [GRCh37]
Chr15:28188719..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1 copy number loss See cases [RCV000052431] Chr15:30361674..32326182 [GRCh38]
Chr15:30653877..32618383 [GRCh37]
Chr15:28441169..30405675 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3487C>T (p.Arg1163Cys) single nucleotide variant not provided [RCV001996162] Chr15:31026924 [GRCh38]
Chr15:31319127 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3519G>A (p.Glu1173=) single nucleotide variant not provided [RCV002078080] Chr15:31026249 [GRCh38]
Chr15:31318452 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3463_3464del (p.Glu1155fs) microsatellite not provided [RCV002014673] Chr15:31026947..31026948 [GRCh38]
Chr15:31319150..31319151 [GRCh37]
Chr15:15q13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1 copy number loss See cases [RCV000137266] Chr15:30361674..32621998 [GRCh38]
Chr15:30653877..32914199 [GRCh37]
Chr15:28441169..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3629+19C>G single nucleotide variant not provided [RCV002131539] Chr15:31026120 [GRCh38]
Chr15:31318323 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3385C>T (p.Leu1129=) single nucleotide variant not provided [RCV002123765] Chr15:31027026 [GRCh38]
Chr15:31319229 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3496+2T>C single nucleotide variant Congenital stationary night blindness 1C [RCV001783914] Chr15:31026913 [GRCh38]
Chr15:31319116 [GRCh37]
Chr15:15q13.3		 likely pathogenic
NM_001252024.2(TRPM1):c.3416T>G (p.Ile1139Ser) single nucleotide variant not provided [RCV001042313] Chr15:31026995 [GRCh38]
Chr15:31319198 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3629+11C>T single nucleotide variant not provided [RCV002164415] Chr15:31026128 [GRCh38]
Chr15:31318331 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3570G>A (p.Arg1190=) single nucleotide variant not provided [RCV002168600] Chr15:31026198 [GRCh38]
Chr15:31318401 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3629+19C>T single nucleotide variant not provided [RCV002128517] Chr15:31026120 [GRCh38]
Chr15:31318323 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3614G>A (p.Arg1205Gln) single nucleotide variant not provided [RCV001916673] Chr15:31026154 [GRCh38]
Chr15:31318357 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs) deletion Congenital stationary night blindness 1C [RCV000778426] Chr15:31026178 [GRCh38]
Chr15:31318381 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3581A>G (p.Asp1194Gly) single nucleotide variant not provided [RCV001863956] Chr15:31026187 [GRCh38]
Chr15:31318390 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1 copy number loss See cases [RCV000052433] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3461G>C (p.Arg1154Thr) single nucleotide variant not provided [RCV001864621] Chr15:31026950 [GRCh38]
Chr15:31319153 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3354G>C (p.Gln1118His) single nucleotide variant not provided [RCV001892140] Chr15:31027057 [GRCh38]
Chr15:31319260 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3429T>C (p.Ile1143=) single nucleotide variant not provided [RCV002154221] Chr15:31026982 [GRCh38]
Chr15:31319185 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3469dup (p.Asp1157fs) duplication not provided [RCV002605327] Chr15:31026941..31026942 [GRCh38]
Chr15:31319144..31319145 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_001252024.2(TRPM1):c.3606G>T (p.Glu1202Asp) single nucleotide variant not provided [RCV000487599] Chr15:31026162 [GRCh38]
Chr15:31318365 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3485A>G (p.Asp1162Gly) single nucleotide variant not provided [RCV001911908] Chr15:31026926 [GRCh38]
Chr15:31319129 [GRCh37]
Chr15:15q13.3		 uncertain significance
Single allele duplication Schizophrenia [RCV000754162] Chr15:30506022..32161746 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3 copy number gain See cases [RCV000135452] Chr15:30438310..32607357 [GRCh38]
Chr15:30730513..32899558 [GRCh37]
Chr15:28517805..30686850 [NCBI36]
Chr15:15q13.2-13.3		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3 copy number gain See cases [RCV000134822] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3 copy number gain See cases [RCV000135974] Chr15:30361656..32150923 [GRCh38]
Chr15:30653859..32443124 [GRCh37]
Chr15:28441151..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=) single nucleotide variant Congenital stationary night blindness 1C [RCV000345455]|TRPM1-related condition [RCV003940226]|not provided [RCV001458374] Chr15:31026144 [GRCh38]
Chr15:31318347 [GRCh37]
Chr15:15q13.3		 likely benign|uncertain significance
NM_001252024.2(TRPM1):c.3593C>A (p.Ser1198Ter) single nucleotide variant not provided [RCV001324306] Chr15:31026175 [GRCh38]
Chr15:31318378 [GRCh37]
Chr15:15q13.3		 likely pathogenic|uncertain significance
NM_001252024.2(TRPM1):c.3540C>G (p.Phe1180Leu) single nucleotide variant not provided [RCV001350570] Chr15:31026228 [GRCh38]
Chr15:31318431 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3613C>T (p.Arg1205Trp) single nucleotide variant not provided [RCV001369917] Chr15:31026155 [GRCh38]
Chr15:31318358 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1 copy number loss See cases [RCV000141477] Chr15:30217122..32217725 [GRCh38]
Chr15:30509325..32509926 [GRCh37]
Chr15:28296617..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3 copy number gain See cases [RCV000136965] Chr15:30291263..32217725 [GRCh38]
Chr15:30583466..32509926 [GRCh37]
Chr15:28370758..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1 copy number loss See cases [RCV000141482] Chr15:30217122..32607357 [GRCh38]
Chr15:30509325..32899558 [GRCh37]
Chr15:28296617..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1 copy number loss See cases [RCV000140690] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1 copy number loss See cases [RCV000139178] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1 copy number loss See cases [RCV000139327] Chr15:30662521..32569411 [GRCh38]
Chr15:30954724..32861612 [GRCh37]
Chr15:28742016..30648904 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000050375] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000050441] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3 copy number gain See cases [RCV000135725] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1 copy number loss See cases [RCV000136622] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3 copy number gain See cases [RCV000137535] Chr15:30629714..32326182 [GRCh38]
Chr15:30921917..32618383 [GRCh37]
Chr15:28709209..30405675 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3413A>G (p.His1138Arg) single nucleotide variant not provided [RCV002908330] Chr15:31026998 [GRCh38]
Chr15:31319201 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3601G>A (p.Asp1201Asn) single nucleotide variant not provided [RCV002979387] Chr15:31026167 [GRCh38]
Chr15:31318370 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3629+9A>G single nucleotide variant not provided [RCV001420085] Chr15:31026130 [GRCh38]
Chr15:31318333 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3558G>A (p.Gln1186=) single nucleotide variant not provided [RCV001434758] Chr15:31026210 [GRCh38]
Chr15:31318413 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3 copy number gain See cases [RCV000142144] Chr15:30621371..32151912 [GRCh38]
Chr15:30913574..32444113 [GRCh37]
Chr15:28700866..30231405 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743) copy number gain Anomalous pulmonary venous return [RCV003223577] Chr15:30866083..32146743 [GRCh38]
Chr15:15q13.2-13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3370C>A (p.His1124Asn) single nucleotide variant Inborn genetic diseases [RCV002910386] Chr15:31027041 [GRCh38]
Chr15:31319244 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3497-10C>T single nucleotide variant not provided [RCV001400836] Chr15:31026281 [GRCh38]
Chr15:31318484 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1 copy number loss See cases [RCV000142300] Chr15:30781532..32154629 [GRCh38]
Chr15:31073735..32446830 [GRCh37]
Chr15:28861027..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3 copy number gain See cases [RCV000142669] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
NM_001252024.2(TRPM1):c.3510C>T (p.Ser1170=) single nucleotide variant not provided [RCV001459124] Chr15:31026258 [GRCh38]
Chr15:31318461 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3 copy number gain See cases [RCV000143499] Chr15:30781466..32154629 [GRCh38]
Chr15:31073669..32446830 [GRCh37]
Chr15:28860961..30234122 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
NM_001252024.2(TRPM1):c.3585G>A (p.Glu1195=) single nucleotide variant not provided [RCV003850437] Chr15:31026183 [GRCh38]
Chr15:31318386 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3556dup (p.Gln1186fs) duplication not provided [RCV003706125] Chr15:31026211..31026212 [GRCh38]
Chr15:31318414..31318415 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_001252024.2(TRPM1):c.3534T>C (p.His1178=) single nucleotide variant not provided [RCV003682768] Chr15:31026234 [GRCh38]
Chr15:31318437 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3431T>G (p.Met1144Arg) single nucleotide variant Inborn genetic diseases [RCV004468644] Chr15:31026980 [GRCh38]
Chr15:31319183 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000148066] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile) single nucleotide variant Congenital stationary night blindness 1C [RCV000505638]|Inborn genetic diseases [RCV002524422]|not provided [RCV001061369] Chr15:31027001 [GRCh38]
Chr15:31319204 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1 copy number loss See cases [RCV000050900] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_30325774)_(32194551_?)del deletion Schizophrenia [RCV000754161] Chr15:30325774..32194551 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3 copy number gain See cases [RCV000140689] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3 copy number gain See cases [RCV000140616] Chr15:30969632..31317417 [GRCh38]
Chr15:31261835..31609620 [GRCh37]
Chr15:29049127..29396912 [NCBI36]
Chr15:15q13.3		 benign
NM_001252024.2(TRPM1):c.3362T>A (p.Met1121Lys) single nucleotide variant not provided [RCV001366103] Chr15:31027049 [GRCh38]
Chr15:31319252 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1 copy number loss See cases [RCV000141147] Chr15:30797731..32170441 [GRCh38]
Chr15:31089934..32462642 [GRCh37]
Chr15:28877226..30249934 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1 copy number loss See cases [RCV000139322] Chr15:30662521..32150923 [GRCh38]
Chr15:30954724..32443124 [GRCh37]
Chr15:28742016..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1 copy number loss See cases [RCV000134823] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1 copy number loss See cases [RCV000138247] Chr15:30629714..32621998 [GRCh38]
Chr15:30921917..32914199 [GRCh37]
Chr15:28709209..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3 copy number gain See cases [RCV000137254] Chr15:30361674..32414682 [GRCh38]
Chr15:30653877..32706883 [GRCh37]
Chr15:28441169..30494175 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3 copy number gain See cases [RCV000138268] Chr15:28730988..32275124 [GRCh38]
Chr15:28976134..32567325 [GRCh37]
Chr15:26775175..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3 copy number gain See cases [RCV000138283] Chr15:28744504..32275124 [GRCh38]
Chr15:28989650..32567325 [GRCh37]
Chr15:26788691..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3 copy number gain See cases [RCV000141654] Chr15:30094195..32151843 [GRCh38]
Chr15:30386398..32444044 [GRCh37]
Chr15:28173690..30231336 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000050442] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1 copy number loss See cases [RCV000139417] Chr15:28744504..32222779 [GRCh38]
Chr15:28989650..32514980 [GRCh37]
Chr15:26788691..30302272 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3 copy number gain See cases [RCV000137855] Chr15:30527262..32621998 [GRCh38]
Chr15:30819465..32914199 [GRCh37]
Chr15:28606757..30701491 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1 copy number loss See cases [RCV000135446] Chr15:30750713..32607357 [GRCh38]
Chr15:31042916..32899558 [GRCh37]
Chr15:28830208..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3 copy number gain See cases [RCV000133742] Chr15:28961114..32343758 [GRCh38]
Chr15:29253317..32635959 [GRCh37]
Chr15:27040609..30423251 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-31045307)x1 copy number loss See cases [RCV000139471] Chr15:30629714..31045307 [GRCh38]
Chr15:30921917..31337510 [GRCh37]
Chr15:28709209..29124802 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3 copy number gain See cases [RCV000139177] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3 copy number gain See cases [RCV000135330] Chr15:30797731..32150818 [GRCh38]
Chr15:31089934..32443019 [GRCh37]
Chr15:28877226..30230311 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3 copy number gain See cases [RCV000135791] Chr15:30361674..31572487 [GRCh38]
Chr15:30653877..31864690 [GRCh37]
Chr15:28441169..29651982 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3396G>A (p.Pro1132=) single nucleotide variant not provided [RCV001465105] Chr15:31027015 [GRCh38]
Chr15:31319218 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3543G>C (p.Glu1181Asp) single nucleotide variant not provided [RCV003022594] Chr15:31026225 [GRCh38]
Chr15:31318428 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_001252024.2(TRPM1):c.3602_3606del (p.Asp1201fs) deletion not provided [RCV003041300] Chr15:31026162..31026166 [GRCh38]
Chr15:31318365..31318369 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3 copy number gain See cases [RCV000142809] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3 copy number gain See cases [RCV000142184] Chr15:30621371..32147323 [GRCh38]
Chr15:30913574..32439524 [GRCh37]
Chr15:28700866..30226816 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14		 pathogenic
NM_001252024.2(TRPM1):c.3496+1G>A single nucleotide variant not provided [RCV003007935] Chr15:31026914 [GRCh38]
Chr15:31319117 [GRCh37]
Chr15:15q13.3		 likely pathogenic
NM_001252024.2(TRPM1):c.3487C>G (p.Arg1163Gly) single nucleotide variant not provided [RCV002914739] Chr15:31026924 [GRCh38]
Chr15:31319127 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1 copy number loss See cases [RCV000143262] Chr15:30629714..32275124 [GRCh38]
Chr15:30921917..32567325 [GRCh37]
Chr15:28709209..30354617 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3549G>A (p.Gln1183=) single nucleotide variant not provided [RCV001406652] Chr15:31026219 [GRCh38]
Chr15:31318422 [GRCh37]
Chr15:15q13.3		 likely benign
NM_001252024.2(TRPM1):c.3556C>T (p.Gln1186Ter) single nucleotide variant not provided [RCV003042503] Chr15:31026212 [GRCh38]
Chr15:31318415 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_001252024.2(TRPM1):c.3481C>T (p.Arg1161Trp) single nucleotide variant not provided [RCV003044280] Chr15:31026930 [GRCh38]
Chr15:31319133 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3615G>C (p.Arg1205=) single nucleotide variant not provided [RCV001404888] Chr15:31026153 [GRCh38]
Chr15:31318356 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3 copy number gain See cases [RCV000142792] Chr15:30629714..32569425 [GRCh38]
Chr15:30921917..32861626 [GRCh37]
Chr15:28709209..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NM_001252024.2(TRPM1):c.3569_3570delinsTT (p.Arg1190Leu) indel not provided [RCV003047716] Chr15:31026198..31026199 [GRCh38]
Chr15:31318401..31318402 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1 copy number loss See cases [RCV000142808] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1 copy number loss See cases [RCV000143747] Chr15:30781465..32154629 [GRCh38]
Chr15:31073668..32446830 [GRCh37]
Chr15:28860960..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000148065] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126862088 COSMIC
GTEx LOC126862088 GTEx
Human Proteome Map LOC126862088 Human Proteome Map
NCBI Gene LOC126862088 ENTREZGENE